Associated Papers
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning.
Shadur B et al.
Journal of Clinical Immunology, 2024
Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency.
Tuğcu GD et al.
Pediatric Allergy, Immunology, and Pulmonology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.
Tang WJ et al.
World Journal of Clinical Cases, 2021
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
29867916 (PubMed )
Supplement: data_sheet_1.PDF
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.
Revel-Vilk S et al.
Clinical Immunology (orlando, Fla.), 2015
New facets of antibody deficiencies.
Liadaki K et al.
Current Opinion in Immunology, 2013
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera G et al.
American Journal of Human Genetics, 2012
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